Lee Jae-Hyeok, Yun Ji Young, Gregory Allison, Hogarth Penelope, Hayflick Susan J
Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan-si, South Korea.
Department of Neurology, Ewha Womans University Seoul Hospital, Ewha Womans University College of Medicine, Seoul, South Korea.
Front Neurol. 2020 Sep 10;11:1024. doi: 10.3389/fneur.2020.01024. eCollection 2020.
Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished by identifying characteristic changes on magnetic resonance imaging (MRI) in combination with clinical findings. However, a significant number of patients with an NBIA disorder confirmed by genetic testing have MRI features that are atypical for their specific disease. The appearance of specific MRI patterns depends on the stage of the disease and the patient's age at evaluation. MRI interpretation can be challenging because of heterogeneously acquired MRI datasets, individual interpreter bias, and lack of quantitative data. Therefore, optimal acquisition and interpretation of MRI data are needed to better define MRI phenotypes in NBIA disorders. The stepwise approach outlined here may help to identify NBIA disorders and delineate the natural course of MRI-identified changes.
大多数脑铁沉积神经变性病（NBIA）可通过结合临床发现识别磁共振成像（MRI）上的特征性变化来鉴别。然而，大量经基因检测确诊为NBIA疾病的患者具有与其特定疾病不符的非典型MRI特征。特定MRI模式的表现取决于疾病阶段和评估时患者的年龄。由于MRI数据集获取的异质性、个体解读偏差以及缺乏定量数据，MRI解读可能具有挑战性。因此，需要对MRI数据进行最佳采集和解读，以更好地定义NBIA疾病的MRI表型。这里概述的逐步方法可能有助于识别NBIA疾病并描绘MRI所识别变化的自然病程。
